ClinVar Miner

List of variants in gene COL4A3, MFF-DT studied for Alport syndrome, autosomal recessive

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Total variants: 223
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HGVS dbSNP
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter)
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1408+35C>T
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter)
NM_000091.5(COL4A3):c.144+12C>A rs1882435
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533
NM_000091.5(COL4A3):c.145-99C>T
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter)
NM_000091.5(COL4A3):c.1576-15T>G rs56243460
NM_000091.5(COL4A3):c.1576-60G>A rs73993878
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter)
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.5(COL4A3):c.2021-54T>C
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2126-1G>C
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter)
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+100G>T
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2375-66C>T
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.5(COL4A3):c.2488_2488+2del
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter)
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter)
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
NM_000091.5(COL4A3):c.2636del (p.Pro879fs)
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.280-40T>G
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter)
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2881+46A>G
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter)
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter)
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3]) rs1553762295
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.324+73C>T
NM_000091.5(COL4A3):c.325-18G>T rs777117192
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter)
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter)
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter)
NM_000091.5(COL4A3):c.3419-39C>T rs4675163
NM_000091.5(COL4A3):c.3419-4del
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter)
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.5(COL4A3):c.3751+1G>A rs781566652
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G
NM_000091.5(COL4A3):c.3882+132T>C
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter)
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)
NM_000091.5(COL4A3):c.4154-69C>T
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.4253-51G>A
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter)
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)
NM_000091.5(COL4A3):c.441+146G>T
NM_000091.5(COL4A3):c.441+150G>T
NM_000091.5(COL4A3):c.442-88A>G
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter)
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter)
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.4649T>G rs200655479
NM_000091.5(COL4A3):c.468+139C>T
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter)
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4756-68A>G
NM_000091.5(COL4A3):c.4756-69A>G
NM_000091.5(COL4A3):c.4756-74A>C
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.5(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.687+103T>A
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.725G>A rs1574699806
NM_000091.5(COL4A3):c.765+49T>G
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000091.5(COL4A3):c.828+20A>G rs13386404
NM_000091.5(COL4A3):c.828+59C>G
NM_000091.5(COL4A3):c.828+84T>G
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.888+30G>A rs35467545
NM_000091.5(COL4A3):c.889-39T>C
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.5(COL4A3):c.933+14T>C rs55928538
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000091.5(COL4A3):c.987+35T>G rs10933172
NM_000091.5(COL4A3):c.988-80T>C rs56326869
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter)

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